14 RESULTS
COMMENT This work represents a step forward toward a gene therapy for Huntington’s disease. This disorder is caused by a trinucleotide repeat expansion of a “CAG” codon in HTT, leading to a dominantly inherited disease with 100 percent penetrance. In the study, t
COMMENT The paper by Duan and colleagues describes the use and evaluation of CRISPR/Cas9 to disrupt the Swedish mutation of the APP gene. The authors have carefully tested this gene therapeutic strategy both via intracerebral delivery in 5xFAD and APP/PS1-transge
COMMENT This approach is highly interesting- as it offers a radical way of suppressing the generation of Aβ and thereby reducing its associated neurotoxicity. The decrease of murine Aβ levels upon treatment of wild type mice was surprisingly robust even when the
COMMENT The new NIA-AA Framework for Alzheimer’s disease marks a big step forward in how we are looking at this disorder and will lead to better diagnostic principles. In addition, to base the diagnosis on pathobiology instead of clinical staging will help to imp
COMMENT The study by Chen et al. offers a possible explanation as to how Parkinson’s disease (PD)-related pathology may appear in the gut and subsequently spread to the CNS. By using two different animal models, rats and nematodes, the authors found that the pres
COMMENT This is an intriguing study. Already in 2007, Hui Zheng and colleagues (Kallhoff et al., 2007) showed that the lack of α-synuclein reduced plaque pathology and increased synaptophysin levels in Aβ transgenic mouse brains. Now, Bachhuber and colleagues hav
COMMENT This is an interesting paper, indicating a marked elevation in the levels of various truncated and multimeric α-synuclein species in the endoplasmic reticulum (ER) from α-synuclein transgenic mice and PD patients. In mice, aggregated α-synuclein species a
COMMENT The work by Scott and colleagues is of great interest as it is trying to pinpoint the molecular details in the synaptic pathology caused by a modest transgenic overexpression of α-synuclein. The authors found that PK-resistant and abnormally phosphorylate
COMMENT Although the outcome maybe wasn’t as good as had been hoped for, the Phase 2 study on Bapineuzumab, a humanized anti-Aβ monoclonal antibody, provided novel perspectives to the field of immunotherapy against Alzheimer disease. The study enrolled 234 patien
COMMENT In this work from Dave Holtzman’s lab, the influence of the sleep-wake cycle on Aβ metabolism was explored. The investigators found that brain interstitial fluid levels of Aβ in transgenic mice fluctuated over a 24-hour period with lower levels during sle
COMMENT Several papers in 2009 have explored the physiological consequences of Aβ oligomers in Alzheimer disease. In this study from Brad Hyman’s lab, a novel method enabling precise quantification of small structures was adopted to study the presence of Aβ oligo
COMMENT In this work, Susan Lindquist and colleagues from the Whitehead Institute reported a functional interaction between α-synuclein and the yeast ortholog of the Parkinson gene ATP13A2. Moreover, they showed that a knockdown of the corresponding ortholog in C
COMMENT It has been a good 10 years since the first disease-causing mutation in the α-synuclein gene (SNCA) was described in a family with autosomal-dominant Parkinson disease. However, in spite of a decade of intense research, only three pathogenic SNCA mutation
COMMENT We appreciate the insightful comment by Drs. Ezzat and Espay and are grateful that our colleagues
